S. HRG. 111–1147 TREATING RARE AND NEGLECTED PEDIATRIC DISEASES: PROMOTING THE DEVELOPMENT OF NEW TREATMENTS AND CURES HEARING OF THE COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS UNITED STATES SENATE ONE HUNDRED ELEVENTH CONGRESS SECOND SESSION ON EXAMINING TREATING RARE AND NEGLECTED PEDIATRIC DISEASES, FOCUSING ON PROMOTING THE DEVELOPMENT OF NEW TREAT- MENTS AND CURES JULY 21, 2010 Printed for the use of the Committee on Health, Education, Labor, and Pensions ( Available via the World Wide Web: http://www.gpo.gov/fdsys/ U.S. GOVERNMENT PRINTING OFFICE 76–592 PDF WASHINGTON : 2012 For sale by the Superintendent of Documents, U.S. Government Printing Office Internet: bookstore.gpo.gov Phone: toll free (866) 512–1800; DC area (202) 512–1800 Fax: (202) 512–2104 Mail: Stop IDCC, Washington, DC 20402–0001 COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS TOM HARKIN, Iowa, Chairman CHRISTOPHER J. DODD, Connecticut MICHAEL B. ENZI, Wyoming BARBARA A. MIKULSKI, Maryland JUDD GREGG, New Hampshire JEFF BINGAMAN, New Mexico LAMAR ALEXANDER, Tennessee PATTY MURRAY, Washington RICHARD BURR, North Carolina JACK REED, Rhode Island JOHNNY ISAKSON, Georgia BERNARD SANDERS (I), Vermont JOHN MCCAIN, Arizona SHERROD BROWN, Ohio ORRIN G. HATCH, Utah ROBERT P. CASEY, JR., Pennsylvania LISA MURKOWSKI, Alaska KAY R. HAGAN, North Carolina TOM COBURN, M.D., Oklahoma JEFF MERKLEY, Oregon PAT ROBERTS, Kansas AL FRANKEN, Minnesota MICHAEL F. BENNET, Colorado DANIEL SMITH, Staff Director PAMELA SMITH, Deputy Staff Director FRANK MACCHIAROLA, Republican Staff Director and Chief Counsel (II) CONTENTS STATEMENTS WEDNESDAY, JULY 21, 2010 Page Harkin, Hon. Tom, Chairman, Committee on Health, Education, Labor, and Pensions, opening statement ............................................................................... 1 Enzi, Hon. Michael B., a U.S. Senator from the State of Wyoming .................... 2 Dodd, Hon. Christopher J., a U.S. Senator from the State of Connecticut ......... 4 Brown, Hon. Sherrod, a U.S. Senator from the State of Ohio ............................. 7 Prepared statement .......................................................................................... 9 Franken, Hon. Al, a U.S. Senator from the State of Minnesota .......................... 11 Goodman, Jesse, M.D., M.P.H., Chief Scientist, U.S. Food and Drug Adminis- tration, Silver Spring, MD ................................................................................... 13 Prepared statement .......................................................................................... 17 Guttmacher, Alan E., M.D., Acting Director, National Institute of Child Health and Human Development, Bethesda, MD ............................................. 21 Prepared statement .......................................................................................... 24 Casey, Hon. Robert P., Jr., a U.S. Senator from the State of Pennsylvania ...... 34 Prepared statement .......................................................................................... 35 Sanders, Hon. Bernard, a U.S. Senator from the State of Vermont ................... 38 Silver, Alexander J., Founder, Jackson Gabriel Silver Foundation, New York, NY ......................................................................................................................... 38 Prepared statement .......................................................................................... 40 Dorman, Diane Edquist, Vice President for Public Policy, National Organiza- tion for Rare Disorders, Washington, DC .......................................................... 47 Prepared statement .......................................................................................... 50 Crowley, John F., President and CEO, Amicus Therapeutics, Cranberry, NJ ... 54 Prepared statement .......................................................................................... 56 Moon, Suerie, Board Member, Doctors Without Borders USA, New York, NY ......................................................................................................................... 62 Prepared statement .......................................................................................... 66 Frattarelli, Daniel A.C., M.D., FAAP, Chair, Committee on Drugs, American Academy of Pediatrics, Dearborn, MI ................................................................. 73 Prepared statement .......................................................................................... 75 ADDITIONAL MATERIAL Statements, articles, publications, letters, etc.: Senator Murray ................................................................................................ 83 Advanced Medical Technology Association (AdvaMed) ................................. 83 Peter J. Hotez, M.D., Ph.D., President, Sabin Vaccine Institute ................. 91 Huntington’s Disease Society of America (HDSA) ......................................... 92 National Venture Capital Association (NVCA) .............................................. 93 Response to questions of Senators Harkin, Enzi, Casey, Hagan, and Franken by the Department of Health and Human Services, Food and Drug Administration ............................................................................. 96 Response to questions of Senators Enzi, Brown, Casey, and Hagan by Alan E. Guttmacher, M.D. ........................................................................... 100 (III) Response to questions of Senator Enzi by Alexander J. Silver .................... 107 National Organization for Rare Disorders (NORD) ....................................... 110 Response to questions of Senators Enzi, Casey, and Franken by Diane Edquist Dorman ............................................................................................ 111 Response to questions of Senator Enzi by John F. Crowley ......................... 121 Response to questions of Senators Enzi and Casey by Suerie Moon ........... 123 Response to questions of Senators Enzi and Franken by Daniel A.C. Frattarelli, M.D., FAAP ................................................................................ 128 (IV) TREATING RARE AND NEGLECTED PEDI- ATRIC DISEASES: PROMOTING THE DEVEL- OPMENT OF NEW TREATMENTS AND CURES WEDNESDAY, JULY 21, 2010 U.S. SENATE, COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS, Washington, DC. The committee met, pursuant to notice, at 10:03 a.m. in room SD–430, Dirksen Senate Office Building, Hon. Tom Harkin, chair- man of the committee, presiding. Present: Senators Harkin, Dodd, Sanders, Brown, Casey, Franken, and Enzi. OPENING STATEMENT OF SENATOR HARKIN The CHAIRMAN. The Committee on Health, Education, Labor, and Pensions will come to order. Good morning, everyone. We meet today to discuss a profoundly important issue: the lack of effective treatments for rare and ne- glected diseases. Over the years, Congress has devoted extraor- dinary sums for research into major diseases that afflict millions of Americans. Mostly this goes through the National Institutes of Health. Some, not an insignificant amount, goes through the De- partment of Defense. But, we’ve been less generous, and less suc- cessful, in mobilizing the research community to come up with therapies and cures for rare and neglected diseases. In the United States, rare diseases are defined as those that af- fect fewer than 200,000 people. According to the National Institutes of Health, there are nearly 7,000 rare diseases, affecting more than 25 million Americans. Yet, there are FDA-approved treatments for only as few as 200 of these diseases. And many of them afflict the most vulnerable members of our population, including children, and their effects can be profound. I know that there are several people, who are in the audience today, living with different diseases. I thank you for being here today to bear witness to what we need to do here, in terms of get- ting better, and more, research into this area. In addition to the rare diseases, the World Health Organization estimates that, beyond our borders, over a billion people suffer from one or more neglected tropical diseases. These are a group of parasitic and bacterial infections. They ravage the poorest popu- lations in the world, and they disproportionately affect children. The conventional wisdom is that these diseases are ignored by drug and device companies because there are inadequate market (1) 2 incentives for engaging in the costly process of developing products for FDA approval. Our discussion this morning will explore the ac- curacy of that belief and what can be done to improve the current situation. Of course, in 1983, we passed the Orphan Drug Act, which pro- vides certain tax benefits and market exclusivity for developing medicines to treat rare diseases. And in 2007, Congress added a tropical disease provision to the Federal Food, Drug, and Cosmetic Act. Most recently, Congress directed the FDA to convene a working group to recommend appropriate trial design and regulatory para- digms to optimize prevention and treatment of rare and tropical diseases. That working group convened in March, and we’re sup- posed to have a report from them by March 2011. And I’m also heartened that the Department of Health and Human Services is taking steps on its own to try to address this challenge. The Center for Disease Control and Prevention is work- ing with the World Health Organization on combating certain ne- glected tropical diseases. In addition, the FDA recently created an Office of